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rs199473082

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473082(C;T)
Make rs199473082(T;T)
ReferenceGRCh38 38.1/142
Chromosome3
Position38609824
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473082
dbSNP (classic)rs199473082
ClinGenrs199473082
ebirs199473082
HLIrs199473082
Exacrs199473082
Gnomadrs199473082
Varsomers199473082
LitVarrs199473082
Maprs199473082
PheGenIrs199473082
Biobankrs199473082
1000 genomesrs199473082
hgdprs199473082
ensemblrs199473082
geneviewrs199473082
scholarrs199473082
googlers199473082
pharmgkbrs199473082
gwascentralrs199473082
openSNPrs199473082
23andMers199473082
SNPshotrs199473082
SNPdbers199473082
MSV3drs199473082
GWAS Ctlgrs199473082
Max Magnitude0
ClinVar
Risk rs199473082(T;T)
Alt rs199473082(T;T)
Reference Rs199473082(C;C)
Significance Probable-Pathogenic
Disease Brugada syndrome not provided Brugada syndrome 1
Variation info
Gene SCN5A
CLNDBN Brugada syndrome not provided Brugada syndrome 1
Reversed 1
HGVS NC_000003.11:g.38651315G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000058850.2, RCV000182949.2, RCV000240636.1,